Connor’s Genetics

We just got the second round of results in (see 8/10 and 8/15 for first round info). They tested the lactate, pyruvate, Pipecolic acid and the plasma amino acids again. For the most part, everything was normal. The lactate/pyruvate ratio was still a little high, but because everything else was in a normal range, the Dr isn’t concerned. However, we realized Connor was never tested for his very long chain fatty acids. So this will be the next step. We talked again about the Tuberous Sclerosis testing. No one wants to foot the bill, or lobby insurance to have the bill paid because there just isn’t enough evidence that the mutation means something. I guess I will let it go for now.